Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:169449894..169459462-chr1:169475885..169501963,75	MCF-7	breast:
2	chr1:169475668..169477747-chr1:169479800..169482071,3	MCF-7	breast:
3	chr1:169475712..169478057-chr1:169524218..169526063,2	MCF-7	breast:
4	chr1:169452842..169460813-chr1:169474364..169480814,10	K562	blood:
5	chr1:169475240..169477243-chr1:169482171..169484444,2	MCF-7	breast:
6	chr1:169474592..169479041-chr1:169479760..169483418,4	K562	blood:

Variant related genes	Relation type
ENSG00000213062	Chromatin interaction
ENSG00000117479	Chromatin interaction

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10800450	0.87[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs10800454	0.83[EUR][1000 genomes]
rs10919178	0.87[AFR][1000 genomes]
rs11579441	0.81[AFR][1000 genomes]
rs12127364	0.87[AFR][1000 genomes]
rs1557570	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1557572	0.83[EUR][1000 genomes]
rs2009814	0.87[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs2157581	0.84[EUR][1000 genomes]
rs2187952	0.82[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs2239852	0.82[EUR][1000 genomes]
rs2301515	0.85[EUR][1000 genomes]
rs3820060	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4656684	0.87[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs4656685	0.81[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs4656687	0.83[EUR][1000 genomes]
rs6030	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6686805	0.81[EUR][1000 genomes]
rs6701330	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7535409	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs916438	0.83[EUR][1000 genomes]
rs9332599	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9332653	0.98[ASN][1000 genomes]
rs9332665	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9332667	0.80[ASN][1000 genomes]
rs970741	0.86[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs974793	0.86[AFR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv831871	chr1:169320673-169486680	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4656185	NME7	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169472400-169477200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:169473800-169476800	Weak transcription	HepG2	liver
3	chr1:169473800-169477600	Weak transcription	Stomach Mucosa	stomach
4	chr1:169475800-169481600	Enhancers	Liver	Liver

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